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Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population

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Date 2019 Feb 26
PMID 30799775
Citations 3
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Abstract

Objective: The aim of the study was to estimate breast cancer risk conferred by individual single-nucleotide polymorphisms of breast cancer susceptibility genes.

Methods: We analyzed the 48 tagging single-nucleotide polymorphisms of 8 breast cancer susceptibility genes involved in the monoubiquitinated FANCD2-DNA damage repair pathway in 734 Chinese women with breast cancer and 672 age-matched healthy controls.

Results: Forty-five tagging single-nucleotide polymorphisms were successfully genotyped by SNPscan, and the call rates for each tagging single-nucleotide polymorphisms were above 98.9%. We found that 13 tagging single-nucleotide polymorphisms of 5 genes ( Parter and localizer of Breast cancer gene2 ( PALB2), Tumour protein 53 ( TP53), Nijmegen breakage syndrome 1, Phosphatase and tensin homolog deleted from chromosome 10 ( PTEN), and Breast cancer gene 1 ( BRCA1-interacting protein 1)) were significantly associated with breast cancer risk. A total of 5 tagging single-nucleotide polymorphisms (rs2299941 of PTEN, rs2735385, rs6999227, rs1805812, and rs1061302 of Nijmegen breakage syndrome 1) were tightly associated with breast cancer risk in sporadic cases, and 5 other tagging single-nucleotide polymorphisms (rs1042522 of TP53, rs2735343 of PTEN, rs7220719, rs16945628, and rs11871753 of BRCA1-interacting protein 1) were tightly associated with breast cancer risk in familial and early-onset cases.

Conclusions: Some of the tagging single-nucleotide polymorphisms of 5 genes ( PALB2, TP53, Nijmegen breakage syndrome 1, PTEN, and BRCA1-interacting protein 1) involved in the monoubiquitinated FANCD2-DNA damage repair pathway were significantly associated with breast cancer risk.

Citing Articles

Association Between Single-Nucleotide Polymorphisms in Breast Cancer Susceptibility Genes and Clinicopathological Characteristics.

Wang S, Zhang K, Tang L, Yang Y, Wang H, Zhou Z Clin Epidemiol. 2021; 13:103-112.

PMID: 33623437 PMC: 7896729. DOI: 10.2147/CLEP.S292429.


Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis.

Li X, Li Z, Yang M, Luo Y, Hu L, Xiao Z Mol Genet Genomic Med. 2021; 9(2):e1578.

PMID: 33403820 PMC: 8077123. DOI: 10.1002/mgg3.1578.


Single nucleotide polymorphisms rs701848 and rs2735343 in PTEN increases cancer risks in an Asian population.

Song D, Zhang Q, Li J, Hao R, Ma Y, Wang P Oncotarget. 2017; 8(56):96290-96300.

PMID: 29221206 PMC: 5707100. DOI: 10.18632/oncotarget.22019.

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